Fwd: Orphanews Europe 4 July 2012

[José Antonio Navarro]

Os remito el último boletín de Orphanews por si alguno de los aspectos tratados pudieran ser de interés. Recordar que este boletín solo se  difunde en inglés.

Un cordial saludo a todos.

José Antonio Navarro

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/7/4
Subject: Orphanews Europe 4 July 2012
To: jana...@yahoo.es

OrphaNews Europe : 4 July 2012
	Editorial
		Fifth meeting of the EUCERD moves rare disease actions forward in key areas
	National & International Policy Developments
		Ireland opens consultation process for developing a national rare disease plan
		New rare disease umbrella group in Austria involved in drafting of a national plan
		Other European news
			CIBERER and the Spanish National Center for Genome Analysis boost genomic research on rare diseases
			Two new publications from France’s National Cancer Institute describe activities to identify and treat hereditary cancers
		Other International News
			Article in popular Indian newspaper calls for a collaborative stakeholder effort to address rare disease issues
			Guidance Documents and Recommendations
				Juvenile dermatomyositis: consensus treatment plans for moderate forms established with the Childhood Arthritis and Rheumatology Research Alliance (CARRA)
				Hepatocellular carcinoma: EASL-EORTC clinical practice guidelines now available
				MUTYH-associated polyposis: indications for genetic testing and clinical management recommendations
				Fibrous dysplasia of bone: best clinical practices
				Cherubism: best clinical practices
				Urea cycle disorders: suggested guidelines for diagnosis and management
	Orphanet News
		Orphanet Report Series on Prevalence updated in all languages
		Two new rare disease emergency guidelines available in Spanish language
	New Syndromes
		A novel type of keratinocytic nevus named PENS and that may be associated with neurologic troubles in a syndromic form
		Intellectual disability, developmental delay, and autistic features associated with microduplication 2q23.1
		A new lysosomal storage disorder has the morphological anomalies of Morquio syndrome but without any enzymatic defect
		High bone mineral density osteogenesis imperfecta due to mutations affecting collagen maturation
		A gastric polyposis syndrome restricted to the proximal stomach where it can progress to dysplasia and gastric adenocarcinoma
		Congenital nephrotic syndrome, interstitial lung disease and epidermolysis bullosa in three children with integrin α3 mutations
	New Genes
		Autosomal dominant limb-girdle muscular dystrophy: mutations of the cytoplasmic isoform of the co-chaperone DNAJB6 induce proteins aggregation in muscle
		Baraitser-Winter syndrome is the predominant phenotype associated with mutations in ACTB and ACTG1 confirming the role of actin in lissencephaly
		Bone sarcoma: BCOR-CCNB3 gene fusion defines a new subtype and highlights mechanisms of oncogenesis for other forms
		Primary ciliary dyskinesia : loss-of-function mutations of DNAAF3 disrupt assembly of dynein arms and ciliary motility
		TAR syndrome is due to a protein Y14 deficiency induced by a compound inheritance associating a null allele and a low frequency-regulatory copy of RBM8A
		Nicolaides-Baraitser syndrome: SMARCA2 mutations disrupt ATPase activity of a chromatin remodeling complex
		Ravine syndrome: mutation in a primate-conserved retrotransposon induces neuronal death by reducing expression of a noncoding RNA
		Joubert syndrome: C5orf42 mutations explain a large portion of French Canadian affected individuals
		Amelo-cerebro-hypohidrotic syndrome: loss-of-function mutations of ROGDI have adverse effects when homozygous or compound heterozygous
		Diaphyseal medullary stenosis-bone malignancy: mutations in a retroviral-derived exon of MTAP suggest that this gene can act as a tumor suppressor
		Acrodysostosis: PDE4D mutations involving the cAMP signaling pathway induce a phenotype with characteristic midface and moderate intellectual disability
		Zunich-Kaye syndrome is due to impaired glycosylphosphatidylinositol biosynthesis induced by PIGL mutations
		Syndromic diarrhea: cases with SKIV2L mutations confirm a link between defects of the exosome complex
		Hereditary breast cancer: XRCC2 expands the list of susceptibility genes associated with an homologous recombination-DNA-repair dysfunction and Fanconi anemia
		Autosomal recessive malignant osteopetrosis: a mutation found in SNX10 could result in a defect of V-ATPase trafficking impairing resorption lacuna
		Early onset autosomal dominant Alzheimer disease: a genetic heterogeneity involving the same pathway and including SORL1 besides APP and PSEN genes
		Kallmann syndrome, combined pituitary hormone deficiencies, and septo-optic dysplasia: a spectrum of anterior midline anomalies with genetic overlap
		Isolated NADH-CoQ reductase deficiency: MTFMT, ACAD9, NDUFB3, NDUFS3 and NDUFS8 mutations identified with exome sequencing coupled with functional analysis
		Hemimegalencephaly: somatic activating mutations of AKT3 limited to the brain cause overgrowth of one cerebral hemisphere
		Monomelic amyotrophy: KIAA1377 and C5orf42 identified as susceptibility genes in patients carrying mutations in one or both of them
	Research in Action
		Two new review articles focus on the mitochondrial disorders
		Cystic fibrosis: a review of causes, effects and therapeutic tools including animal models of the disease
		Fundamental Research
			Lowe disease: a zebrafish model reveals that OCLR1 contributes to primary cilia assembly in acting into protein trafficking
			Kawasaki disease: critical role of interleukin-1β in coronary lesions shown in a mouse model suggests anti-IL-1β therapy
			Fetal methylmercury (MeHg) syndrome: increased neuronal Ca2+ spike frequency rescues granule cell migration in mice exposed to MeHg for short periods
			Amyotrophic lateral sclerosis: key mechanisms, in particular vulnerability to PI3K inhibition, revealed by iPSCs derived from a patient with a TDP-43 mutation
			Williams syndrome: an illustration of the influence of genes on behavior via the neural system
			Isolated NADH-CoQ reductase deficiency: a KO NDUFS6 mouse model generated by gene-trapping and inducing primarily a cardiac phenotype
			Mechanisms and response to drugs of familial isolated dilated cardiomyopathy can be modeled by cardiomyocytes generated from iPSCs derived from patients
		Clinical Research
			Chordoma: imatinib has antitumour effects in advanced cases but its therapeutic action remains to be demonstrated
			Children with juvenile idiopathic arthritis have a higher risk of developing malignancy whatever their treatment
			Behcet disease: infliximab has a well tolerated activity inducing and maintaining remission of vasculitic manifestations
			Familial hemophagocytic syndromes: degranulation assays allow a rapid and reliable classification of patients
			Severe primary immunodeficiency diseases: a neonatal screening based on a novel PCR method measuring levels of markers of T and B cell production
			Severe combined immunodeficiency: grafts of stem cells from a mismatched related-donor and from the umbilical cord of an unrelated donor are both valid options
			Frontotemporal dementia is more frequently associated with amyotrophic lateral sclerosis in patients with expanded repeats in C9ORF72
			Acute lymphoblastic leukemia: inotuzumab ozogamicin, an antibody against a CD highly expressed in patients, is promising in refractory and relapsed cases
			A defibrotide prophylaxis lowers the incidence of hepatic veno-occlusive in paediatric haemopoietic stem-cell transplantation recipients
		Stem Cells
			Chronic granulomatous disease: a model generated in vitro from human induced pluripotenty stem cells lines derived from patients
		Gene Therapy
			Haemophilia B: factor IX expression in skeletal muscle of a patient 10 years after AAV-mediated gene transfer
			Haemophilia A: recombinant factor VIII Fc fusion protein provides prolonged protection in humans, mice and dogs allowing less frequent dosing
			Autosomal recessive limb-girdle muscular dystrophy type 2F is ameliorated in hamsters by gene delivery of MG53 essential for sarcolemmal membrane repair
			Xeroderma pigmentosum complementation group C: first long-term genetic correction of human XP-C epidermal stem cells
			Methylmalonic acidaemia due to complete methylmalonyl-CoA mutase deficiency: an AAV with renal tropism restores MCM function in a murine model
			Sustained correction of ornithine transcarbamylase deficiency in mice with a self-complementary AAV optimized in order to increase OTC expression
			A helper-dependent adenovirus encoding a human G6Pase transgene increases lifespan of dogs with glycogenosis due to G6P deficiency type A
			Hurler syndrome: injection of encapsulated engineered myoblasts overexpressing IDUA reduce glycosaminoglycan accumulation in a mouse model
		Therapeutic Approaches
			Neuromyelitis optica: new therapeutic approaches based on the blocking of the autoantibodies anti-aquaporin-4 or the inhibition of a neutrophil protease
			Duchenne muscular dystrophy progression is attenuated by elimination of fibrin-driven inflammation coupled to the αMβ2 leukocyte integrin receptor
			Phenylketonuria: novel pharmalogical chaperones restoring PAHV106A variant function in mice but not yet tested for other PAH mutations
			Rett syndrome: inhibition of the glucocorticoid system of a mouse model has a positive impact contrary to its activation
			Fabry disease: pharmacological chaperone AT1001 improves enzyme replacement therapy with the recombinant human α-Gal A in mice
			Retinitis pigmentosa: intravitreal STC-1 reduces oxidative stress, decreases loss of photoreceptors and improves retinal function measured by ERG
			MELAS and MERRF syndromes: RNA import into mitochondria provides an approach for treating disorders due to mitochondrial DNA defects
			Duchenne muscular dystrophy: Hsp72 overexpression improves Ca2+ handling by protecting SERCA and slows muscle degeneration in mice
			Chronic pharmalogical mGlu5 inhibition corrects a broad spectrum of Fragile X syndrome phenotypes in adult mice
	Patient Management and Therapy
		Adiposis dolorosa (Dercum’s disease): a review with proposal of diagnostic criteria, diagnostic methods, classification and management
		Haemophilia: a review of past, present and future of treatment
		Hepatocellular carcinoma: an update including major advances in prevention, detection, diagnosis, and treatment
		Multiple system atrophy: premotor symptoms should allow diagnosis of early stages
		Multiple myeloma: a review of results obtained with novel drugs for maintenance treatment
		Eight new Clinical Utility Gene Cards available
		CDG syndrome: a review of inherited glycosylation disorders
		Haemophilia: what care in 2012?
		Retinoblastoma: global digital communications present opportunities to optimise standards of care for children around the world
		Care for proximal spinal muscular atrophy: consensus and controversies
		Dengue: an expanding disease
		X-linked retinoschisis: from RS1 protein to the disease not forgetting the RS1 gene
		Congenital myasthenic syndromes: 186th ENMC International Workshop
		Fragile X syndrome, and X-linked syndromic and nonsyndromic intellectual deficit: the contributions from genetics
		Cystic fibrosis: an update on the screening, diagnosis, management, and treatment of vitamin D deficiency
	Orphan Drugs
		Regulatory News
			Nine positive opinions recommending orphan designation adopted at the June COMP meeting
			CHMP recommends approval of first treatment in the EU for short bowel syndrome
	Grants
		Histiocytosis Association announces launch of 2012 Research Grant Application
	Courses & Educational Initiatives
		Summer School for Clinical Practice Guidelines on Rare Diseases
		Epidermolysis Bullosa – An Introduction and Advanced Management courses
		Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
		IberoAmerican Course for the Multidisciplinary Study of Movement Disorders: Parkinson Disease and Spinocerebellar Ataxias
		Master of Science in Haemoglobinopathy
		The European School of Haematology distance learning tools
		Orphan Academy 2012 Programme
		EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
	What's on Where?
		World Federation of Hemophilia World Congress
		Retina International World Congress
		7th Annual Rare Disease and Orphan Drug Leadership Congress
		3rd Annual Orphan Drug Summit
		7th European Elastin Meeting
		13th International Workshop on Multiple Endocrine Neoplasia
		The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
		First International Symposium on the Ehlers-Danlos Syndrome
		Joint DIA/ EFGCP/ EMA Medicines for Children Conference on Development of Paediatric Medicines: From Learning to Adapting
		15th Biennial Meeting of the European Society for Immunodeficiencies
		Mechanisms of Intellectual Disability: From Genes to Treatment
		EpiRare International Workshop: Rare Disease and Orphan Drug Registries
		Second International Conference on Esophageal Atresia: From the Fetus to the Adult
		Orphan Drugs & Rare Diseases Conference
		15th Society for the Study of Behavioural Phenotypes
		3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
		The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
		International Ataxia Research Conference
		8th International Society for Newborn Screening European Regional Meeting
		6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
		3rd Annual World Orphan Drug Congress
		10th Asia-Pacific Conference on Human Genetics
		7th Alstrom Syndrome International Family Conference and Scientific Symposium
		8th International Prader-Willi Syndrome Conference
	Media, Press & Publications
		Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing
		A new text provides an understanding of dental genetics and related conditions
		Old and new entities with Rett or Angelman syndrome-like intellectual disability
		Glycoland and the Coloured Antennas helps children make sense of a rare metabolic disease
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